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Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism by Maha Dahawi, Jean-Madeleine de Sainte Agathe, Mohamed S. Elmagzoub, Elhami A. Ahmed, Julien Buratti, Thomas Courtin, Eric Noé, Julie Bogoin, Bruno Copin, Fatima A. Elmugadam, Wasma A. Abdelgadir, Ahmed K. M. A. Ahmed, Mohamed A. Daldoum, Rayan Mamoon Ibrahim Altayeb, Mohamed Bashir, Leena Mohamed Khalid, Sahar Gamil, Sara Baldassari, Liena Elsayed, Boris Keren, Gregory Nuel, Ammar E. Ahmed, Eric Leguern
Published 2024-11-01Get full text
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Expanding the phenotypic and genetic landscape of congenital neutropenia through whole‐exome and genome sequencing by Séverine Marti, Philippe Pellet, Blandine Beaupain, Léa Durix, Julien Buratti, Yves Réguerre, Nathalie Aladjidi, Saba Azarnoush, Severine Clauin, Wahid Abou Chahla, Gilles Blaison, Jeremy Bertand, Damien Bodet, Benoit Brethon, Jessica Chane‐Teng, Manon Delafoy, Chrystelle Dupraz, Virginie Gandemer, Philippe Denizeau, Alice Goldenberg, Pierre Hirsch, Anaïs l'Haridon, Aude Marie‐Cardine, Gabriella Vera, Brigitte Nelken, Laure Nizery, Marie Nolla, Marlène Pasquet, Jérémie Rosain, Louis Terriou, Isabelle Plo, Jean Donadieu, Christine Bellanné‐Chantelot
Published 2025-06-01Get full text
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